Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation.
- 1 June 1981
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 18 (3) , 228-231
- https://doi.org/10.1136/jmg.18.3.228
Abstract
An 18 yr old female with some stigmata of pure gonadal dysgenesis had a chromosome constitution of 46,X,dir dup(X) (pter .fwdarw. q27: :q21 .fwdarw. qter). The abnormal chromosome was always late replicating. The clinical and cytogenetic picture is compared with that of patients with X;X translocation and some problems of karyotype-phenotype correlation are discussed.Keywords
This publication has 12 references indexed in Scilit:
- Deletion mapping of the human X chromosomeHereditas, 2009
- Position of the human X inactivation center on XqHuman Genetics, 1979
- Isodicentric X chromosome in a woman with characteristics of gonadal dysgenesisHuman Genetics, 1979
- X-X translocation in a patient with gonadal dysgenesis and the problem of phenotype-karyotype correlationsHuman Genetics, 1978
- Replication patterns of three isodicentric X chromosomes and an X isochromosome in human lymphocytesAmerican Journal of Medical Genetics, 1978
- Balanced reciprocal X-4 translocation in a female patient with early secondary amenorrheaAmerican Journal of Obstetrics and Gynecology, 1977
- CASE OF 46,X,T(X-X)(PTER-]Q27==Q27-]PTER)/47,X,T(X-X)(PTER-]Q27==Q27-]PTER),+MAR/48,XX,T(X-X)(PTER-]Q27==Q27-]PTER),+MAR AND A FUNCTIONALLY MONOCENTRIC TRANSLOCATION X1977
- A possible active segment on the inactive human X chromosomeChromosoma, 1976
- X inactivation in man: a woman with t(Xq--;12q+).1973
- Evidence for X/X chromosome translocation in humansAnnals of Human Genetics, 1969